This Research Topic is the second volume in the series, and the previous volume can be viewed here:

Functional Study of Novel VUS (Variant of Uncertain Significance) Mutations in Single-gene Inherited Disease.

The genomic medicine era is upon us, and the clinical application of Next-Generation Sequencing (NGS) is becoming increasingly widespread. Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) have identified numerous novel mutations; however, their pathogenicity remains unknown. For these clinically uncharacterized novel mutations, it is imperative that we undertake laboratory-based functional validation to assess their pathogenicity. Subsequently, the results should be disseminated, contributing to the human gene mutation databases such as OMIM, ClinVar, and HGMD, among others, for wider sharing within the industry. These studies hold profound significance for clinical genetic diagnostics.

The correlation between diseases and genes requires further enrichment and refinement. During human genetics and evolution, numerous mutations, including Single Nucleotide Variations (SNVs) and Copy Number Variations (CNVs), arise. How can we identify the pathogenicity of these mutations? How can we achieve this through bioinformatics analysis and assessment? It necessitates ongoing communication and the introduction of new methods and technologies for assessing the functionality of novel mutations. Simultaneously, this enriches the spectrum of human genetic mutations and deepens our understanding of various monogenic inherited diseases.

Within this Research Topic, we are particularly interested in articles covering the following aspects:

• Analysis of Cases in Monogenic Inherited Disease Pedigrees
• Types of Genetic Mutations in Inherited Diseases
• Pathogenicity Analysis of Novel Mutations in Monogenic Inherited Diseases
• Methods and Technologies for Functional Validation of Gene Mutations
• High-throughput functional Validation of Genetic Mutations in Inherited Diseases
• Bioinformatics Tools and Methods for Pathogenicity Analysis of Gene Mutations
• Pathogenicity Analysis of Genomic Structural Variations

Are you interested in contributing a manuscript to this Research Topic?

Functional Study of Novel VUS (Variant of Uncertain Significance) Mutations in Single-gene Inherited Disease, Volume II